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Spinocerebellar ataxia type 1
1 OMIM reference -
1 associated gene
76 connected diseases
No signs/symptoms info
Disease Type of connection
Familial isolated dilated cardiomyopathy
Amyotrophic lateral sclerosis
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Hamel cerebro-palato-cardiac syndrome
X-linked intellectual deficit, Golabi-Ito-Hall type
X-linked intellectual deficit, Porteous type
X-linked intellectual deficit, Sutherland-Haan type
Autosomal recessive limb-girdle muscular dystrophy type 2G
Adams-Oliver syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2H
BOR syndrome
Bardet-Biedl syndrome
Cerebellar ataxia - hypogonadism
Spinocerebellar ataxia type 2
Agnathia - holoprosencephaly - situs inversus
Alternating hemiplegia of childhood
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Combined pituitary hormone deficiencies, genetic forms
Isolated anophthalmia - microphthalmia
Rapid-onset dystonia-parkinsonism
Septo-optic dysplasia
Syndromic microphthalmia type 5
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Cowden syndrome
Proteus syndrome
15q13.3 microdeletion syndrome
1p36 deletion syndrome
2q37 microdeletion syndrome
3-phosphoserine phosphatase deficiency
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Autosomal dominant Charcot-Marie-Tooth disease type 2P
Autosomal recessive cutis laxa type 1
Autosomal recessive primary microcephaly
Cerebro-facio-articular syndrome
Charcot-Marie-Tooth disease type 1C
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Craniosynostosis, Boston type
Epidermolysis bullosa simplex with pyloric atresia
Ewing sarcoma
Generalized junctional epidermolysis bullosa, non-Herlitz type
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Hereditary sensory and autonomic neuropathy type 2
Inherited congenital spastic tetraplegia
Isolated CoQ-cytochrome C reductase deficiency
Isolated focal cortical dysplasia type IIb
Junctional epidermolysis bullosa - pyloric atresia
Juvenile myoclonic epilepsy
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Kleefstra syndrome due to 9q34 microdeletion
Kleefstra syndrome due to a point mutation
Late-onset autosomal recessive medullary cystic kidney disease
Lethal arteriopathy syndrome due to FBLN4 deficiency
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Localized junctional epidermolysis bullosa, non-Herlitz type
Lymphangioleiomyomatosis
MODY syndrome
NPHP3-related Meckel-like syndrome
Parietal foramina
Parietal foramina with cleidocranial dysplasia
Prolidase deficiency
Pseudohypoaldosteronism type 2C
Renal-hepatic-pancreatic dysplasia
Senior-Loken syndrome
Spondyloepimetaphyseal dysplasia with multiple dislocations
Steinert myotonic dystrophy
Tuberous sclerosis
Williams syndrome
Acute promyelocytic leukemia
Autosomal dominant severe congenital neutropenia
Synonym(s):
- SCA1
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ATXN1 P54253601556
No signs/symptoms info available.